HPRT1 wt Allele

Preferred Label : HPRT1 wt Allele;

NCIt synonyms : Hypoxanthine Phosphoribosyltransferase 1 (Lesch-Nyhan Syndrome) wt Allele; HGPRT; HPRT;

NCIt definition : Human HPRT1 wild-type allele is located in the vicinity of Xq26.1 and is approximately 40 kb in length. This allele, which encodes hypoxanthine-guanine phosphoribosyltransferase protein, plays a role in purine salvage. Certain allelic variants of the HPRT1 gene cause HPRT-related gout or Lesch-Nyhan syndrome.;

NCIt note : Gene_Has_Function: Purine Salvage;

GenBank Accession Number : NM_000194;

Details

Origin ID

C50966;

UMLS CUI

C1704831;

OMIM relation
- Hypoxanthine guanine phosphoribosyltransferase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Gout [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- X: 133319777-133360216 [NCIt concept]
gene_in_chromosomal_location
- Xq26.1 [NCIt concept]
gene_is_element_in_pathway
- Drug Metabolism by Non-CYP450 Enzymes Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Glycosylation [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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